CRIGLER-NAJJAR SYNDROME TYPE I IN A TURKISH NEWBORN CAUSED BY A NOVEL MUTATION AND GILBERT TYPE GENETIC DEFECT

Yildiz D., Alan S., Kilic A., Yaman A., Erdeve Ö., Kuloglu Z., ...Daha Fazla

GENETIC COUNSELING, cilt.24, sa.3, ss.273-277, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 3
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.273-277
  • Anahtar Kelimeler: Crigler-Najjar syndrome, Gilbert's syndrome, Mutation Newborn, UGT1A1, HYPERBILIRUBINEMIA, KERNICTERUS, PATIENT, REGION
  • Ankara Üniversitesi Adresli: Evet

Özet

Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and gilbert type genetic defect: Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth. We present a girl with CNS type I caused by a novel mutation and Gilbert type genetic defect. Gilbert's Syndrome (GS) and CNS type I both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin UGT. The combined defects even in benign genetic forms were shown to cause more serious clinical disease. The patient has been treated with daily home-based phototherapy for more than nine months and considered as a candidate for liver transplantation.